Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil

Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil

Lysosomal storage diseases (LSDs) are genetic disorders, clinically heterogeneous, mainly caused by defects in genes encoding lysosomal enzymes that degrade macromolecules. Several LSDs already have specific therapies that may improve clinical outcomes, especially if introduced early in life. With t...

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Bibliographic Details
Main Authors: Heydy Bravo, Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Claudio Sampaio Filho, Fernanda Bittencourt, Fernanda Sebastião, Fernanda Bender, Ana Paula Scholz de Magalhães, Régis Guidobono, Franciele Barbosa Trapp, Kristiane Michelin-Tirelli, Carolina F.M. Souza, Diana Rojas Málaga, Gabriela Pasqualim, Ana Carolina Brusius-Facchin, Roberto Giugliani
Format: Article
Language:English
Published: Elsevier 2017-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Lysosomal storage diseases
Newborn screening
Confirmatory diagnosis
Carrier
Pseudodeficiency
Brazil
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426917300617

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http://www.sciencedirect.com/science/article/pii/S2214426917300617

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